ClinVar for Gene (Select 27094) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062685	GRCh37/hg19 3q26.32(chr3:178540352-178991786)x1	KCNMB2, KCNMB3 +2 more	Copy number loss	not specified	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2654288	NM_006218.4(PIK3CA):c.*5681C>G	KCNMB3, PIK3CA (R158T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2532843	NM_171830.2(KCNMB3):c.373T>A (p.Phe125Ile)	KCNMB3 (F129I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402474	NM_171830.2(KCNMB3):c.527A>G (p.His176Arg)	KCNMB3 (H176R +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2398338	NM_171830.2(KCNMB3):c.163G>A (p.Val55Met)	KCNMB3 (V37M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2255521	NM_171830.2(KCNMB3):c.800G>A (p.Arg267Lys)	KCNMB3 (R249K +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1527058	GRCh37/hg19 3q26.32-26.33(chr3:178944833-179245494)	GNB4, KCNMB3 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1411483	NC_000003.11:g.(?_178947772)_(179144440_?)dup	GNB4, KCNMB3 +3 more	Duplication	Cowden syndrome	GUncertain significance
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 1250939	NM_171830.2(KCNMB3):c.145G>A (p.Ala49Thr)	KCNMB3 (A31T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 773453	NM_171830.2(KCNMB3):c.495C>G (p.Asn165Lys)	KCNMB3 (N147K +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 771137	NM_171830.2(KCNMB3):c.482A>G (p.Asn161Ser)	KCNMB3 (N143S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 685633	GRCh37/hg19 3q26.32-26.33(chr3:178961249-179029230)x1	KCNMB3	Copy number loss	not provided	GUncertain significance
Select item 638139	GRCh37/hg19 3q26.32-26.33(chr3:178869440-179400345)x3	ZNF639, ACTL6A +7 more	Copy number gain	See cases	GUncertain significance
Select item 562844	GRCh37/hg19 3q26.32-26.33(chr3:178940421-179278597)x3	GNB4, ZNF639 +3 more	Copy number gain	not provided	GLikely benign
Select item 443796	GRCh37/hg19 3q26.32-26.33(chr3:178853769-179369934)x3	ACTL6A, GNB4 +6 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 403000	NM_171830.2(KCNMB3):c.753del (p.Val252fs)	KCNMB3 (V252fs +3 more)	Deletion (frameshift variant +2 more)	not specified	GBenign
Select item 395452	GRCh37/hg19 3q26.32-26.33(chr3:178917597-179094773)x3	KCNMB3, MFN1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 155645	GRCh38/hg38 3q26.32-26.33(chr3:178391683-179786092)x3	LOC129937956, LOC129937957 +51 more	Copy number gain	See cases	GLikely benign
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	ABCC5, ABCC5-AS1 +1064 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	LOC129389166, LOC129389167 +306 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ALG3, AP2M1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ABCC5, ABCC5-AS1 +866 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	ABCC5, ABCC5-AS1 +1041 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 42